GENE NAME | HMCN1 |
CHROMOSOME | 1 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000143341 |
UNIPROT ACCESSION NUMBER | Q96RW7 |
GO MOLECULAR FUNCTION | ['extracellular matrix structural constituent', 'calcium ion binding', 'protein binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
1 combination linked to HMCN1 | OLI1333 |
2 variants linked to HMCN1 | HMCN1:c.109G>A, ; HMCN1:c.4586A>G, |
1 disease linked to HMCN1 | Primary immunodeficiency |